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Tag: Whole Genome Sequencing

  • 23andMe Is Sinking Fast. Can the Company Survive?

    23andMe Is Sinking Fast. Can the Company Survive?

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    Kteily says by the time the company rolled out these services, it was too late. Customers had already left the platform. “I think they hit on something viral, which was the concept of where you’ve come from. People found that so fascinating. But once you know that information, you’re not going to come back five years later and pay for a subscription,” he says.

    Sumit Nagpal, a serial entrepreneur in the health tech space and a self-described early adopter of 23andMe, says he was among the company’s subscribers but eventually stopped logging into the online platform. He says the reports didn’t provide much “actionable” health advice. “It never had any life-changing value,” he says.

    Nagpal’s latest company, Cherish, which he founded in 2020, is developing radar-based sensor platforms equipped with AI for health and safety monitoring. He thinks 23andMe could have had more offerings earlier on—for instance, personalized coaching on diet, exercise, and other lifestyle factors on an ongoing basis to keep customers engaged.

    In many ways, 23andMe’s conundrum is similar to the Instant Pot problem. Its initial product was so successful that people never needed to come back to buy another one.

    23andMe has tried to diversify its revenue streams, making deals to allow pharmaceutical companies to mine its vast genetic database for drug leads. It partnered with Genentech back in 2015, and when that ended, it struck an exclusive deal with GlaxoSmithKline in 2018. The pharma company invested $300 million in 23andMe, but that agreement expired in 2023, with no big partners stepping in to fill Glaxo’s shoes. And while 23andMe recently shut down its drug discovery unit, it is continuing to advance the drug candidates it already has in clinical trials.

    Now, the company has turned to growing its telehealth business. In 2021, it acquired telehealth service Lemonaid. Capitalizing on the Ozempic craze, Lemonaid started offering Ozempic, Wegovy, and compounded semaglutide in August through a weight-loss program. After an initial consultation with a clinician, the membership is $49 per month with weight-loss medication starting at $299 a month for compounded semaglutide. “The addition of weight-loss management for our customers fits directly within our strategy of delivering services to approved individuals’ health through preventive actions,” Wojcicki said in an earnings call in August.

    But it may not be enough. Estelle Giraud, CEO and founder of Trellis Health, which is building a health app for pregnancy, says the anti-obesity space is already crowded. 23andMe will have to prove that it offers something unique compared to other telehealth providers. “If I’m a customer looking for a telehealth solution, it comes down to brand and trust,” she says.

    And establishing trust may be 23andMe’s biggest challenge after last year’s data breach exposed personal information from nearly 7 million customers’ profiles. It doesn’t help that there’s always been confusion among users over the company’s data practices. Customers must give their express consent to share their deidentified genetic data for research purposes, but one survey conducted in 2017 and 2018 by university researchers found that more than 40 percent of customers polled were not aware that using and sharing customer data was part of 23andMe’s business model. When users opted into sharing their data for research, likely many of them didn’t realize that “research” included helping Big Pharma develop new drugs.

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  • Merck Introduces Aptegra CHO genetic stability assay for accelerated biosafety testing

    Merck Introduces Aptegra CHO genetic stability assay for accelerated biosafety testing

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    Merck, a leading science and technology company, has launched the first all-in-one, validated genetic stability assay of its kind. The Aptegra™ CHO genetic stability assay leverages whole genome sequencing and bioinformatics to significantly accelerate biosafety testing for clients and therefore, their move into commercial production.

    Merck Introduces Aptegra CHO genetic stability assay for accelerated biosafety testing
    A scientist preparing samples in the next-generation sequencing laboratory at Merck’s/MilliporeSigma’s Rockville, Maryland, USA site. Image Credit: Merck

    Driving innovation in biosafety testing is essential to bringing new therapies to patients faster. CHO genetic stability testing has remained relatively unchanged for many years. The Aptegra™ platform transforms biosafety testing with a digital solution using next-generation sequencing.”

    Benjamin Hein, Head of Life Science Services, Life Science business of Merck

    Currently, FDA guidance requires biotech companies to use multiple assays to address genetic stability requirements. This traditional package of assays is costly, time-consuming, and often results in data that need additional interpretation and support. The Aptegra™ platform addresses these pain points by replacing five different assays and four different technologies with one assay utilizing the next-generation sequencing technology platform. This approach reduces testing time by 66 percent and reduces costs by 43 percent compared to traditional methods. The platform meets all regulatory requirements for genetic stability assurance, including copy number assessment.

    Merck has made significant investments over the last five years to expand its biosafety testing capabilities for clients across the globe. The company’s global biosafety testing network includes sites in Shanghai, China; Singapore; Stirling and Glasgow, UK; and Rockville, MD, USA.

    The Aptegra™ digital platform adds to a transformative portfolio of digital technologies developed by Merck. In December, Merck launched AIDDISON™, an AI-powered platform that integrates generative design with predictive synthesis planning, allowing rapid identification of promising candidates and reducing risk of late-stage failures. Additionally, Merck offers a first of its kind Bio4C® Software Suite, which combines data analytics and visualization, automation, and control software for GMP manufacturing.

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  • Exome sequencing unravels complex genetic diagnoses in growth disorders

    Exome sequencing unravels complex genetic diagnoses in growth disorders

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    In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, such as short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma, mildly altered blood sugar, and a history of recurring infections in infancy. 

    The team used exome sequencing, in which only the protein-coding portion of the genome is analyzed, to look for genetic mutations, and found them in GCK and BCL11B. As a result, the diagnosis was monogenic diabetes and T-cell abnormality syndrome, both of which are rare diseases. Identification of the exact cause of the problem and the discovery of a blood sugar alteration significantly influenced their choice of treatment. 

    This is one of six cases involving syndromic growth disorders with multiple genetic diagnoses (two or more distinct genetic conditions in the same patient) described in the article, which concerns a study conducted by researchers at the University of São Paulo’s Medical School (FM-USP) with FAPESP’s support. 

    Exome sequencing is a very useful technology to reduce what we call the diagnostic odyssey – the long journey patients with rare or complex conditions have to undergo until they receive a proper diagnosis. Ten years ago, private labs charged BRL 10,000. The price has now fallen to BRL 4,000 [about USD 800]. That’s still a lot of money for a test, but it has proved essential to accurate diagnosis and treatment in cases of this kind.”


    Alexander Augusto de Lima Jorge, last author of the article

    The team sequenced the exomes of 115 patients with syndromic growth disorders that had hitherto unknown causes, diagnosing 63 on the basis of the genetic analysis; 9.5% of these had a multiple diagnosis, far more than in previous studies. 

    “The cases involved two or more rare monogenic conditions in the same patient. Such cases are very hard to diagnose, especially by clinical assessment alone. The study highlights the need to use broad genetic tests such as whole exome or whole genome sequencing for these patients as the only way to identify the rare diseases that explain such clusters of conditions,” Lima Jorge said. 

    There are numerous rare diseases, including growth disorders, so it is naturally difficult to identify many of them, he added. Between 5% and 10% of the world population is believed to have a rare disease. 

    Short stature or tall stature is not a diagnosis but a clinical finding. “Short stature may have an external cause, such as an infection or malnutrition. Even so, genetic factors will always be important to growth. In healthy children with short or tall stature as the only manifestation, there will probably be a polygenic basis [where stature is influenced by several genetic variants], but in syndromic growth disorders, in which short or tall stature is accompanied by other findings such as mental deficiency, deafness, autism spectrum disorder or malformation, an alteration in one or more genes is more likely as a justification for the complex phenotype involved,” Lima Jorge said. 

    In light of the results, the researchers advocate recognition of multiple genetic diagnoses as a possibility in complex cases of growth disorder, opening up novel prospects for treatment and genetic counseling for such patients, in place of the typical paradigm that calls for a single diagnosis to explain all findings. 

    In the article, the researchers state that the development of next-generation sequencing techniques such as whole exome or whole genome sequencing has made selecting a single gene as the candidate to explain a case unnecessary. This particular benefit has proved useful in the research environment to foster the discovery of novel disease-associated genes, to further the study of conditions with a high degree of genetic heterogeneity, and to help care for patients with complex syndromic conditions, where diagnoses cannot be obtained by traditional clinical and genetic methods. 

    Several challenges noted by Lima Jorge include the high cost of genetic tests and the fact that exome sequencing has a success rate of about 50% in the diagnosis of complex cases. In other words, about half the patients submitted to this kind of analysis will have to go on looking for a conclusive diagnosis.

    Source:

    São Paulo Research Foundation (FAPESP)

    Journal reference:

    Rezende, R. C., et al. (2024). Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders. The Journal of Pediatrics. doi.org/10.1016/j.jpeds.2023.113841.

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